Congenital Cardiac Defects and Critical Congenital Heart Defects

AbstractSitus ambiguous comprises of 3% of congenital heart defects and is present in at least 1 in 10,000 live births. Most cases diagnosed prenatally are associated with complex cardiac defects which can be detected by ultrasonography. This is a case report of a fetus presenting with hydrops, which was detected to have situs ambiguous, a complex cardiac defect and multiple laterality defects on autopsy.

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Blood flow patterns underlie developmental heart defects

AJP Heart and Circulatory Physiology ◽

10.1152/ajpheart.00641.2016 ◽

2017 ◽

Vol 312 (3) ◽

pp. H632-H642 ◽

Cited By ~ 29

Author(s):

Madeline Midgett ◽

Kent Thornburg ◽

Sandra Rugonyi

Keyword(s):

Blood Flow ◽

Congenital Heart Defects ◽

Dose Response ◽

Congenital Heart ◽

Heart Defects ◽

Flow Patterns ◽

Early Embryo ◽

Response Type ◽

Cardiac Defects ◽

Blood Flow Patterns

Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes. Constricting the outflow tract by 10–35% led predominantly to ventricular septal defects, whereas constricting by 35–60% most often led to double outlet right ventricle. Ligation of the vitelline vein caused mostly pharyngeal arch artery malformations. We show that both cardiac inflow reduction and graded outflow constriction strongly influence the development of specific and persistent abnormal cardiac structure and function. Moreover, the hemodynamic-associated cardiac defects recapitulate those caused by genetic disorders. Thus our data demonstrate the importance of investigating embryonic blood flow conditions to understand the root causes of congenital heart disease as a prerequisite to future prevention and treatment. NEW & NOTEWORTHY Congenital heart defects result from genetic anomalies, teratogen exposure, and altered blood flow during embryonic development. We show here a novel “dose-response” type relationship between the level of blood flow alteration and manifestation of specific cardiac phenotypes. We speculate that abnormal blood flow may frequently underlie congenital heart defects.

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Unexpected death in children with severe congenital heart defects in Norway 2004–2016

Archives of Disease in Childhood ◽

10.1136/archdischild-2020-319936 ◽

2021 ◽

pp. archdischild-2020-319936

Author(s):

Gunnar Wik ◽

Jarle Jortveit ◽

Vasileios Sitras ◽

Gaute Døhlen ◽

Arild E Rønnestad ◽

...

Keyword(s):

Oxygen Saturation ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Low Oxygen ◽

Clinical Registry ◽

Cardiac Intervention ◽

Cardiac Defects ◽

Staged Surgery

AimsUpdated knowledge on the rates and causes of death among children with severe congenital heart defects (CHDs) is needed to further improve treatment and survival. This study investigated nationwide mortality rates in children with severe CHDs with an emphasis on unexpected mortality unrelated to cardiac intervention.Methods and resultsData on all pregnancies and live-born children in Norway from 2004 to 2016 were obtained from national registries, the Oslo University Hospital’s Clinical Registry for CHDs and medical records. Among 2359 live-born children with severe CHDs, 234 (10%) died before 2 years of age. Of these, 109 (46%) died in palliative care, 58 (25%) died of causes related to a cardiac intervention and 67 (29%) died unexpectedly and unrelated to a cardiac intervention, either before (n=26) or following (n=41) discharge after a cardiac intervention. Comorbidity (38/67, 57%), persistent low oxygen saturation (SaO2; <95%; 41/67, 61%), staged surgery (21/41, 51%), residual cardiac defects (22/41, 54%) and infection (36/67, 54%) were frequent in children who died unexpectedly unrelated to an intervention. Two or more of these factors were present in 62 children (93%). The medical reports at hospital discharge lacked information on follow-up in many patients who died unexpectedly.ConclusionsThe numbers of unexpected deaths unrelated to cardiac intervention in children <2 years of age without comorbidity were low in Norway. However, close follow-up is recommended for infants with comorbidities, persistent low oxygen saturation, staged surgery or residual cardiac defects, particularly when an infection occurs.

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Congenital Cardiac Defects That Are Borderline Candidates for Biventricular Repair

Critical Care Nurse ◽

10.4037/ccn2018679 ◽

2018 ◽

Vol 38 (5) ◽

pp. e7-e13 ◽

Cited By ~ 1

Author(s):

Megan Tracey

Keyword(s):

Decision Making ◽

Congenital Heart ◽

Heart Defects ◽

Postoperative Treatment ◽

Decision Making Process ◽

Biventricular Repair ◽

Cardiac Defects ◽

Surgical Decision ◽

Congenital Cardiac Defects ◽

Surgical Decision Making

This article discusses congenital heart defects that are marginal candidates for biventricular repair and highlights the anatomic considerations upon which the surgical decision is based. Specifically, the article reviews the importance of capacitance and compliance of the ventricles and their associated atrioventricular valves. For each of the defects discussed, the imaging modalities used to diagnose a marginal ventricle are reviewed and the surgical decision-making process is outlined. The article also reviews immediate postoperative treatment of these patients and when to consider biventricular repair of a marginal lesion to be a failure.

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GENETICS OF CARDIAC MALFORMATIONS

Fetal and Maternal Medicine Review ◽

10.1017/s0965539508002155 ◽

2008 ◽

Vol 19 (2) ◽

pp. 105-118

Author(s):

SHA TANG ◽

TAOSHENG HUANG

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Heart Defects ◽

Fetal Life ◽

Genetic Syndromes ◽

Cardiac Defects ◽

Psychological Burden ◽

Congenital Cardiac Defects ◽

Child Healthcare

ABSTRACTCongenital heart disease is one of the most common major malformations in humans, contributing substantially to the financial and psychological burden of child healthcare. About one percent of children are born with heart defects, and every year, more children die from congenital heart disease than are diagnosed with cancer. A diagnosis of congenital heart disease is frightening for parents, particularly when it affects a fragile newborn. The heart is the first organ to be matured in a human fetus and if a particular congenital heart defect is compatible with fetal life, the child will be born with a defective heart. More than 300 genetic syndromes are associated with congenital cardiac defects. In this review, we will discuss the genetics of congenital heart disease, how to carry out a diagnosis of the genetic causes and how to provide counseling for families with congenital heart disease.

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